Publications:

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: NOTCH1: V276M; rs369721921

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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EGFR-Mutated Squamous Cell Lung Cancer and Its Association With Outcomes.

Frontiers In Oncology

Jin, Rui R; Peng, Ling L; Shou, Jiawei J; Wang, Jin J; Jin, Yin Y; Liang, Fei F; Zhao, Jing J; Wu, Mengmeng M; Li, Qin Q; Zhang, Bin B; Wu, Xiaoying X; Lan, Fen F; Xia, Lixia L; Yan, Junrong J; Shao, Yang Y; Stebbing, Justin J; Shen, Huahao H; Li, Wen W; Xia, Yang Y

Publication Date: 2021

Variant appearance in text: NOTCH1: 826G>A; V276M

PubMed Link: 34195081

Variant Present in the following documents:

• Table_2.xlsx, sheet 3

View BVdb publication page

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Genomic characterization of a newly established esophageal squamous cell carcinoma cell line from China and published esophageal squamous cell carcinoma cell lines.

Cancer Cell International

Li, Xiang X; Tian, Dongping D; Guo, Yi Y; Qiu, Shiyue S; Xu, Zexin Z; Deng, Wen W; Su, Min M

Publication Date: 2020

Variant appearance in text: rs369721921

PubMed Link: 32489320

Variant Present in the following documents:

• 12935_2020_1268_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Early loss of mitochondrial complex I and rewiring of glutathione metabolism in renal oncocytoma.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Gopal, Raj K RK; Calvo, Sarah E SE; Shih, Angela R AR; Chaves, Frances L FL; McGuone, Declan D; Mick, Eran E; Pierce, Kerry A KA; Li, Yang Y; Garofalo, Andrea A; Van Allen, Eliezer M EM; Clish, Clary B CB; Oliva, Esther E; Mootha, Vamsi K VK

Publication Date: 2018-07-03

Variant appearance in text: NOTCH1: V276M

PubMed Link: 29915083

Variant Present in the following documents:

• pnas.1711888115.sd01.xlsx, sheet 3

View BVdb publication page

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Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One

Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK

Publication Date: 2018

Variant appearance in text: NOTCH1: 826G>A; Val276Met; rs369721921

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 6

View BVdb publication page

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The genomic landscape and evolution of endometrial carcinoma progression and abdominopelvic metastasis.

Nature Genetics

Gibson, William J WJ; Hoivik, Erling A EA; Halle, Mari K MK; Taylor-Weiner, Amaro A; Cherniack, Andrew D AD; Berg, Anna A; Holst, Frederik F; Zack, Travis I TI; Werner, Henrica M J HM; Staby, Kjersti M KM; Rosenberg, Mara M; Stefansson, Ingunn M IM; Kusonmano, Kanthida K; Chevalier, Aaron A; Mauland, Karen K KK; Trovik, Jone J; Krakstad, Camilla C; Giannakis, Marios M; Hodis, Eran E; Woie, Kathrine K; Bjorge, Line L; Vintermyr, Olav K OK; Wala, Jeremiah A JA; Lawrence, Michael S MS; Getz, Gad G; Carter, Scott L SL; Beroukhim, Rameen R; Salvesen, Helga B HB

Publication Date: 2016-08

Variant appearance in text: NOTCH1: V276M

PubMed Link: 27348297

Variant Present in the following documents:

• NIHMS791814-supplement-1.pdf

View BVdb publication page

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Evaluating Cancer of the Central Nervous System Through Next-Generation Sequencing of Cerebrospinal Fluid.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Pentsova, Elena I EI; Shah, Ronak H RH; Tang, Jiabin J; Boire, Adrienne A; You, Daoqi D; Briggs, Samuel S; Omuro, Antonio A; Lin, Xuling X; Fleisher, Martin M; Grommes, Christian C; Panageas, Katherine S KS; Meng, Fanli F; Selcuklu, S Duygu SD; Ogilvie, Shahiba S; Distefano, Natalie N; Shagabayeva, Larisa L; Rosenblum, Marc M; DeAngelis, Lisa M LM; Viale, Agnes A; Mellinghoff, Ingo K IK; Berger, Michael F MF

Publication Date: 2016-07-10

Variant appearance in text: NOTCH1: 826G>A; V276M; rs369721921

PubMed Link: 27161972

Variant Present in the following documents:

• supp_JCO.2016.66.6487_DS_2016.666487.xlsx, sheet 1

View BVdb publication page

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: NOTCH1: V276M

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

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